55012[geneid] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 151240	GRCh38/hg38 14q13.2(chr14:35068276-35231604)x3	FAM177A1, LOC101927178 +5 more	Copy number gain	See cases	GLikely benign
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 870577	NC_000014.9:g.35077780_35087566del	FAM177A1, LOC101927178 +1 more	Deletion	FAM177A1-related disorder	GLikely pathogenic
Select item 2560943	NM_017917.4(PPP2R3C):c.1347C>A (p.Asp449Glu)	LOC101927178, PPP2R3C (D449E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2664213	NM_017917.4(PPP2R3C):c.1310_1311dup (p.Ala438fs)	LOC101927178, PPP2R3C (A328fs +1 more)	Microsatellite (frameshift variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GUncertain significance
Select item 2274805	NM_017917.4(PPP2R3C):c.1279T>A (p.Leu427Met)	LOC101927178, PPP2R3C (L427M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703719	NM_017917.4(PPP2R3C):c.1250G>A (p.Gly417Glu)	LOC101927178, PPP2R3C (G417E +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 2558221	NM_017917.4(PPP2R3C):c.1238A>G (p.Asn413Ser)	LOC101927178, PPP2R3C (N413S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039479	NM_017917.4(PPP2R3C):c.1174-10dup	LOC101927178, PPP2R3C	Duplication (intron variant)	PPP2R3C-related disorder	GBenign
Select item 3309514	NM_017917.4(PPP2R3C):c.1157C>T (p.Ser386Leu)	LOC101927178, PPP2R3C (S386L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411539	NM_017917.4(PPP2R3C):c.1132A>G (p.Lys378Glu)	LOC101927178, PPP2R3C (K268E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595836	NM_017917.4(PPP2R3C):c.1087G>A (p.Val363Ile)	LOC101927178, PPP2R3C (V253I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 627423	NM_017917.4(PPP2R3C):c.1049T>C (p.Phe350Ser)	LOC101927178, PPP2R3C (F350S +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 2329235	NM_017917.4(PPP2R3C):c.938G>A (p.Arg313His)	LOC101927178, PPP2R3C (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217795	NM_017917.4(PPP2R3C):c.920C>T (p.Thr307Ile)	LOC101927178, PPP2R3C (T307I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217794	NM_017917.4(PPP2R3C):c.905G>C (p.Gly302Ala)	LOC101927178, PPP2R3C (G302A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239309	NM_017917.4(PPP2R3C):c.859A>G (p.Lys287Glu)	LOC101927178, PPP2R3C (K177E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214957	NM_017917.4(PPP2R3C):c.856G>A (p.Asp286Asn)	LOC101927178, PPP2R3C (D176N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3340142	NM_017917.4(PPP2R3C):c.841del (p.Gln281fs)	LOC101927178, PPP2R3C (Q171fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 36	GUncertain significance
Select item 3217793	NM_017917.4(PPP2R3C):c.806G>C (p.Trp269Ser)	LOC101927178, PPP2R3C (W159S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217792	NM_017917.4(PPP2R3C):c.799A>G (p.Thr267Ala)	LOC101927178, PPP2R3C (T157A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236808	NM_017917.4(PPP2R3C):c.779T>C (p.Leu260Pro)	LOC101927178, PPP2R3C (L260P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2627172	NM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)	PPP2R3C, LOC101927178 (I128fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1703718	NM_017917.4(PPP2R3C):c.678CTT[2] (p.Phe229del)	LOC101927178, PPP2R3C (F229del +1 more)	Microsatellite (inframe_deletion +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 2456147	NM_017917.4(PPP2R3C):c.678C>G (p.Phe226Leu)	LOC101927178, PPP2R3C (F116L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703717	NM_017917.4(PPP2R3C):c.639_647dup (p.Tyr218_Val219insSerPheTyr)	LOC101927178, PPP2R3C	Duplication (inframe_insertion +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 627424	NM_017917.4(PPP2R3C):c.578T>C (p.Leu193Ser)	LOC101927178, PPP2R3C (L193S +1 more)	Single nucleotide variant (missense variant +1 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 154632	GRCh38/hg38 14q13.2(chr14:35109816-35151026)x1	LOC101927178, LOC126861916 +3 more	Copy number loss	See cases	GBenign
Select item 3217791	NM_017917.4(PPP2R3C):c.376G>A (p.Val126Ile)	LOC101927178, PPP2R3C (V16I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545099	NM_017917.4(PPP2R3C):c.320A>G (p.Gln107Arg)	LOC101927178, PPP2R3C (Q107R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 627425	NM_017917.4(PPP2R3C):c.308T>C (p.Leu103Pro)	LOC101927178, PPP2R3C (L103P)	Single nucleotide variant (5 prime UTR variant +2 more)	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	GPathogenic
Select item 3037244	NM_017917.4(PPP2R3C):c.173G>A (p.Arg58Gln)	PPP2R3C (R58Q)	Single nucleotide variant (missense variant +1 more)	PPP2R3C-related disorder	GLikely benign
Select item 2393167	NM_017917.4(PPP2R3C):c.121G>A (p.Glu41Lys)	PPP2R3C (E41K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258248	NM_017917.4(PPP2R3C):c.119C>T (p.Ser40Phe)	PPP2R3C (S40F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613049	NM_017917.4(PPP2R3C):c.38C>T (p.Thr13Met)	LOC126861916, PPP2R3C +2 more (T13M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1327440	NM_017917.4(PPP2R3C):c.-9A>G	PRORP, LOC126861916 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685483	GRCh37/hg19 14q13.2(chr14:35561562-35723514)x1	PPP2R3C, PRORP	Copy number loss	not provided	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815638	GRCh37/hg19 14q13.2(chr14:35395019-35783469)x3	PPP2R3C, FAM177A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 564117	GRCh37/hg19 14q13.1-13.2(chr14:35232984-35652742)x3	SRP54, BAZ1A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 65